Human SNP ID | rs867186 |
---|---|
Human chromosome | chr20 |
Human SNP position | 35176751 |
Pig chromosome | chr17 |
Pig SNP position | 43733891 |
PubMed ID | 20802025 |
---|---|
Journal | Blood |
Link | www.ncbi.nlm.nih.gov/pubmed/20802025 |
Study | Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. |
Disease/Trait | Protein C levels |
Initial sample | 8,048 European ancestry individuals |
Replication sample | 1,376 European ancestry individuals |
Region | 20q11.22 |
Chromosome id | chr20 |
Chromosome position | 35176751 |
Reported gene | PROCR |
Mapped gene | PROCR |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 10544 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs867186-C |
SNPs | rs867186 |
Merged | 0 |
SNP id current | 867186 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.1 |
P value | 2E-200 |
Pvalue mlog | 199.698970004336 |
P value text | |
Or beta | 0.47 |
%95 Ci | [0.44-0.50] ug/ml increase |
Platform | Affymetrix [2461269] |
CNV | N |
Mapped trait | protein C measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004633 |
Study accession | GCST000780 |
PubMed ID | 21502573 |
Journal | Circulation |
Link | www.ncbi.nlm.nih.gov/pubmed/21502573 |
Study | Genetic predictors of fibrin D-dimer levels in healthy adults. |
Disease/Trait | D-dimer levels |
Initial sample | 21,052 European ancestry individuals |
Replication sample | NA |
Region | 20q11.22 |
Chromosome id | chr20 |
Chromosome position | 35176751 |
Reported gene | PROCR |
Mapped gene | PROCR |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 10544 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs867186-G |
SNPs | rs867186 |
Merged | 0 |
SNP id current | 867186 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.091 |
P value | 0.000004 |
Pvalue mlog | 5.39794000867203 |
P value text | |
Or beta | 0.0484 |
%95 Ci | [NR] % increase |
Platform | Affymetrix, Illumina [2522393] (imputed) |
CNV | N |
Mapped trait | D dimer measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004507 |
Study accession | GCST001049 |
PubMed ID | 22216198 |
Journal | PLoS One |
Link | www.ncbi.nlm.nih.gov/pubmed/22216198 |
Study | A genome-wide association study of the Protein C anticoagulant pathway. |
Disease/Trait | Anticoagulant levels |
Initial sample | 397 European ancestry individuals from 21 families |
Replication sample | NA |
Region | 20q11.22 |
Chromosome id | chr20 |
Chromosome position | 35176751 |
Reported gene | PROCR |
Mapped gene | PROCR |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 10544 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs867186-G |
SNPs | rs867186 |
Merged | 0 |
SNP id current | 867186 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.077 |
P value | 0.000000004 |
Pvalue mlog | 8.39794000867203 |
P value text | (PC) |
Or beta | 0.845 |
%95 Ci | [NR] SD increase |
Platform | Illumina [283437] |
CNV | N |
Mapped trait | protein C measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004633 |
Study accession | GCST001365 |
PubMed ID | 22443383 |
Journal | Br J Haematol |
Link | www.ncbi.nlm.nih.gov/pubmed/22443383 |
Study | Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project. |
Disease/Trait | Hemostatic factors and hematological phenotypes |
Initial sample | 951 European ancestry individuals |
Replication sample | NA |
Region | 20q11.22 |
Chromosome id | chr20 |
Chromosome position | 35176751 |
Reported gene | PROCR |
Mapped gene | PROCR |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 10544 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs867186-G |
SNPs | rs867186 |
Merged | 0 |
SNP id current | 867186 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.1 |
P value | 0.000002 |
Pvalue mlog | 5.69897000433601 |
P value text | (ACVn ratio) |
Or beta | 0.37 |
%95 Ci | [0.21-0.53] unit increase |
Platform | Illumina [472123] |
CNV | N |
Mapped trait | hematological measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004503 |
Study accession | GCST001378 |
PubMed ID | 25376901 |
Journal | Genet Epidemiol |
Link | www.ncbi.nlm.nih.gov/pubmed/25376901 |
Study | Genetic Markers Associated With Plasma Protein C Level in African Americans: The Atherosclerosis Risk in Communities (ARIC) Study. |
Disease/Trait | Protein C levels |
Initial sample | 2,701 African American individuals |
Replication sample | NA |
Region | 20q11.22 |
Chromosome id | chr20 |
Chromosome position | 35176751 |
Reported gene | PROCR |
Mapped gene | PROCR |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 10544 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs867186-C |
SNPs | rs867186 |
Merged | 0 |
SNP id current | 867186 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.09 |
P value | 1E-64 |
Pvalue mlog | 64 |
P value text | |
Or beta | 0.49 |
%95 Ci | [0.43-0.55] unit increase |
Platform | Affymetrix [2649157] |
CNV | N |
Mapped trait | protein C measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004633 |
Study accession | GCST002686 |
PubMed ID | 20231535 |
Journal | Circulation |
Link | www.ncbi.nlm.nih.gov/pubmed/20231535 |
Study | Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium. |
Disease/Trait | Factor VII levels |
Initial sample | 15,422 European ancestry individuals |
Replication sample | Up to 7,604 European ancestry individuals |
Region | 20q11.22 |
Chromosome id | chr20 |
Chromosome position | 35176751 |
Reported gene | PROCR |
Mapped gene | PROCR |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 10544 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs867186-? |
SNPs | rs867186 |
Merged | 0 |
SNP id current | 867186 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 6E-37 |
Pvalue mlog | 36.2218487496163 |
P value text | |
Or beta | |
%95 Ci | |
Platform | Affymetrix, Illumina [2734954] (imputed) |
CNV | N |
Mapped trait | factor VII measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004619 |
Study accession | GCST000625 |
PubMed ID | 22443383 |
Journal | Br J Haematol |
Link | www.ncbi.nlm.nih.gov/pubmed/22443383 |
Study | Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project. |
Disease/Trait | Hemostatic factors and hematological phenotypes |
Initial sample | 951 European ancestry individuals |
Replication sample | NA |
Region | 20q11.22 |
Chromosome id | chr20;20;20;20 |
Chromosome position | 35157873;35176751;35165459;34957813 |
Reported gene | GSS, EDEM2, PROCR |
Mapped gene | EDEM2 - PROCR; PROCR; EDEM2 - PROCR; MYH7B |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs6088735-?; rs867186-?; rs6060278-?; rs17310467-? |
SNPs | rs6088735; rs867186; rs6060278; rs17310467 |
Merged | 0 |
SNP id current | |
Context | intergenic_variant; missense_variant; intergenic_variant; upstream_gene_variant |
Intergenic | |
Allele frequency | 0.105 |
P value | 4E-34 |
Pvalue mlog | 33.397940008672 |
P value text | (PC levels) |
Or beta | 19.273 |
%95 Ci | [16.174-22.372] iu/ml increase GCTG |
Platform | Illumina [472123] |
CNV | N |
Mapped trait | protein C measurement, hematological measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004633, http://www.ebi.ac.uk/efo/EFO_0004503 |
Study accession | GCST001378 |